Test Price
2,800 AEDโ Home Collection Available
AGL Gene Glycogen Storage Disease Type 3 Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity achieved through ISO 9001:2015 accredited NGS processing with orthogonal Sanger confirmation of all clinically significant variants.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available across all seven emirates daily from 8 AM to 11 PM.
- Clinical Guidance: Telephonic post-test clinical guidance with a qualified genetic counselor to interpret results within your family pedigree and clinical presentation.
- Insurance Support: Direct billing verification via WhatsApp at +971 54 548 8731. Pre-authorization assistance available.
Test Overview & Methodology
The AGL Gene Glycogen Storage Disease Type 3 Genetic Test is a comprehensive next-generation sequencing assay that analyzes the full coding region of the AGL (amylo-alpha-1,6-glucosidase, 4-alpha-glucanotransferase) gene to identify pathogenic variants responsible for Glycogen Storage Disease Type III (GSD III), also known as Cori Disease or Forbes Disease. This autosomal recessive inborn error of metabolism impairs glycogen debranching enzyme activity, leading to abnormal glycogen accumulation in the liver, skeletal muscle, and cardiac tissue.
| Parameter | Our Test (NGS โ AGL Full Gene) | Closest Alternative (Sanger Single-Exon) |
|---|---|---|
| Precision / Coverage | Full AGL gene: all 33 coding exons, intron-exon boundaries, and 5'/3' UTR regions | Targeted single-exon or hotspot analysis only; may miss deep intronic or novel variants |
| Methodology | Illumina NovaSeq X Plus platform with 300x mean depth; variant confirmation via orthogonal Sanger sequencing | Capillary electrophoresis-based Sanger sequencing; lower throughput and limited multiplexing |
| Turnaround Time | 21 to 28 calendar days with interim verbal report at Day 14 | 6 to 10 weeks per gene segment; sequential testing required for full coverage |
| Clinical Utility | Definitive molecular diagnosis, carrier screening, prenatal counseling, and genotype-phenotype correlation | Preliminary screening; often requires reflex to broader NGS panel |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh โ Consultant Medical Genetics, DHA Registration ID: 9294403
"Confirming a pathogenic AGL variant is the cornerstone of managing GSD Type III, yet it must be integrated with biochemical enzyme activity assays and the full clinical picture. I urge families to view this genetic test not as an isolated result but as a guide for dietary intervention, cardiac monitoring, and reproductive planning. Every variant tells a storyโour role is to interpret that story with precision and compassion, ensuring that patients and their families receive the support they need at every stage."
Advisory Note on Medication and Dietary Regimens
Do not discontinue any prescribed medication or dietary regimen without consulting your treating physician. Patients with suspected or confirmed GSD Type III may be on medically prescribed cornstarch therapy, high-protein dietary protocols, or cardiac medications. Abrupt cessation can precipitate life-threatening hypoglycemia or metabolic decompensation, particularly in pediatric patients.
Safety Exclusion Criteria & Emergency Red Flags
๐ Exclusion Criteria (Do Not Proceed with Home Collection If):
- Patient is currently experiencing acute hypoglycemic episode (blood glucose < 3.3 mmol/L or 60 mg/dL).
- Patient has active febrile illness (>38.5ยฐC) or uncontrolled seizure activity.
- Patient is under 48 hours post-blood transfusion; cell-free DNA contamination may confound results.
- Inability to provide informed consent (for minors, both parents or legal guardian must provide dual consent as per Federal Decree-Law No. 4 of 2016).
- Incomplete pre-test genetic counseling session or missing signed pedigree documentation.
๐จ Emergency Red Flags โ Seek Immediate Medical Attention:
- Unexplained lethargy, confusion, or loss of consciousness (suspect severe hypoglycemia).
- Acute abdominal distension with right upper quadrant pain (suspect rapid hepatomegaly or hepatic adenoma).
- New-onset chest pain, palpitations, or dyspnea on exertion (suspect cardiomyopathy โ echocardiogram indicated).
- Progressive proximal muscle weakness with elevated creatine kinase (CK > 1000 U/L).
- Failure to thrive or growth faltering in infants and toddlers with known GSD III.
This safety information is aligned with Federal Decree-Law No. 4 of 2016 on Medical Liability. If any red flag symptom is present, proceed to the nearest emergency department or call 998 (UAE Ambulance).
Patient FAQ & Clinical Guidance
1. What does the AGL gene NGS test detect, and how does it help my family?
This test detects pathogenic single-nucleotide variants, small insertions/deletions, and copy-number variations across the entire AGL gene, enabling definitive molecular confirmation of Glycogen Storage Disease Type III.
By identifying the specific AGL mutations present in an affected individual, this test provides a conclusive molecular diagnosis that distinguishes GSD Type III from other glycogen storage disorders (such as GSD Type I or VI). This clarity allows your clinical team to tailor dietary management (high-protein, cornstarch-based regimens), initiate appropriate cardiac surveillance, and offer accurate carrier testing and prenatal diagnosis to at-risk family members.
2. What is the sample collection process, and is home collection available across all UAE emirates?
A DHA-licensed phlebotomist collects 3-5 mL of whole blood in an EDTA tube at your home, which is then transported under ISO-certified cold-chain conditions to our central laboratory.
VIP Mobile Phlebotomy is available across all seven emirates โ Abu Dhabi, Dubai, Sharjah, Ajman, Umm Al Quwain, Ras Al Khaimah, and Fujairah โ between 8:00 AM and 11:00 PM daily. The phlebotomist arrives with a complete temperature-monitored kit. For pediatric patients, a single drop of blood on an FTA card may be accepted as an alternative sample type, subject to prior laboratory approval. Extracted DNA samples from external laboratories are also accepted provided they meet our purity (A260/A280 ratio 1.8โ2.0) and concentration (โฅ50 ng/ยตL) criteria.
3. How reliable are these results, and what quality controls do you use?
Our laboratory employs a dual-platform validation protocol where all clinically significant NGS findings are orthogonally confirmed by Sanger sequencing, achieving 99.9% analytical sensitivity and specificity.
Every sequencing run includes internal quality metrics: mean target coverage โฅ300x, Q30 score โฅ90%, and uniformity โฅ95%. External quality assurance is maintained through annual participation in the College of American Pathologists (CAP) NGS proficiency testing and the European Molecular Genetics Quality Network (EMQN) external quality assessment scheme for inherited metabolic disorders. The laboratory operates under ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139) and complies with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) for genomic data privacy. Variant classification follows ACMG/AMP 2020 consensus guidelines.
UAE Regulatory & Data Privacy Adherence
This test is conducted in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Patient data, including genetic results, are encrypted, access-controlled, and processed solely for diagnostic purposes. Clinical safety and patient consent follow Federal Decree-Law No. 4 of 2016 on Medical Liability. DNA Labs UAE holds DHA Facility License number 1143 and operates from Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
Clinical & Logistical Metadata
| Test Name | AGL Gene Glycogen Storage Disease Type 3 Genetic Test (NGS Full Gene Sequencing) |
| Price (AED) | 2,800 |
| Turnaround Time | 21 to 28 calendar days with interim verbal report at Day 14 |
| Sample Type / Matrix | Whole blood (EDTA) โ 3-5 mL; VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (daily 8 AMโ11 PM) |
| Methodology Used | Next-Generation Sequencing (Illumina NovaSeq X Plus, 300x mean depth) with orthogonal Sanger confirmation of clinically significant variants |
| ICD-10-CM Code | E74.03 (Glycogen storage disease type III) |
| LOINC Code | 89952-7 (AGL gene mutation analysis) |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians